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Evaluating diagnosis and management gaps in wilson disease: results from a qualitative patient survey

Tamir Miloh, Mary Graper, Michael Schilsky

Wilson disease (WD) is a rare genetic disorder causing copper accumulation affecting many organs, primarily the liver and Central Nervous System (CNS). Critical to preventing disease progression are early diagnosis and intervention. A 21-question survey was distributed within the Wilson Disease Association patient network. The aim was to assess clinical presentation, time to accurate diagnosis and current challenges with management. 97 of 877 patients responded (11%), 93% from the United States. Average age was 46% and 53% were male. Presenting symptoms were predominantly hepatic or neurologic (33% and 34%). At symptom onset, 35% consulted their Primary Care Provider (PCP). Diagnosis was primarily confirmed by a gastroenterologist/hepatologist (52%). Time from presentation to diagnosis was <1 year (68%), 1-5 years (22%) and >5 years (10%). One-third of patients reported being misdiagnosed. Patients presenting with CNS symptoms were misdiagnosed almost twice as often as patients presenting with liver symptoms (48% and 28%). As firstline therapy, 58% were prescribed D-penicillamine (D-Pa) and 35% were prescribed trientine. At the time of the survey, 19 patients remained on trientine for >4 years and 10 on D-Pa. Change in therapy was mainly due to side effects of medication (23%). General challenges with therapy included dietary restrictions (55%), cost of therapy (39%), dosing frequency (35%), product storage (27%), and side effects (24%). The rate of misdiagnosis with WD is high, especially in patients with CNS symptoms. There is a need to address patient reported challenges including improved recognition of signs and symptoms and early diagnosis.